In a study published today in the New England Journal of Medicine, researchers funded by the Wellcome Trust and the Association of Physicians of Great Britain and Ireland compared the genomes of 194 people affected by the disease from southern Ethiopia against 203 people who were unaffected. They identified three genetic variants that increased the risk of developing the condition.
Podoconiosis, a type of elephantiasis (leg swelling) found in farming communities in the tropics, is triggered by an abnormal reaction to irritant mineral particles found in soils of volcanic origins amongst people who cannot afford shoes. Credit: Gail Davey
Podoconiosis, or 'podo', as it is often called, was added to the World Health Organization's list of neglected tropical diseases in 2011. It is a type of elephantiasis (leg swelling) found in farming communities in the tropics and is triggered by an abnormal reaction to irritant mineral particles found in soils of volcanic origins amongst people who cannot afford shoes.
Many years of walking, ploughing or playing barefoot on these soils appears to trigger inflammatory changes within the lymph system in the legs, which in time can lead to foot swelling and ultimately elephantiasis.
The disease often runs in families, implying that there is a hereditary component to the disease, but until now, no genetic variants had been identified which confer increased risk. The genetic variants discovered in this new study all fall within a region of the genome known as the HLA class II, which is important in controlling immune responses. Combined, the three variants increase the risk of developing podoconiosis by a factor of two to three.
Prof Melanie Newport from Brighton & Sussex Medical School, who led the study, says: "The region where we have found these susceptibility genes for podoconiosis plays an important role in controlling our immune system. It confirms what we had expected, that there is an immunological basis to the disease. Although this is still early days for identifying potential treatments, it suggests that drugs that target immune responses may be useful."
First author Dr Fasil Tekola Ayele from the Armauer Hansen Research Institute, Ethiopia, adds: "Genome wide association studies on African populations are still fairly novel. However, this study highlights the importance of such studies in helping us understand the origins of diseases that are particularly common on the continent." Dr Ayele is currently on a postdoctoral attachment at the National Human Genome Research Institute, USA.
Dr Abraham Aseffa, also from the Armauer Hansen Research Institute, says: "Our next step is to try to pinpoint exactly which molecules are involved in podoconiosis, and which specific genetic mutations affect the function of these molecules. This will shed a lot more light on potential therapeutic options."
Professor Newport and colleagues have recently launched Footwork, an international initiative to bring together public and private partners to prevent and treat podoconiosis Footwork aims to integrate podoconiosis control with that of other neglected tropical diseases wherever possible, and to partner with organizations working in foot-related conditions to advocate for shoes as cost-effective interventions to tackle such diseases.
"There are still many places round the world where people cannot afford a pair of shoes," says Dr Gail Davey, co-author on the study and Executive Director of Footwork. "For some people, this means cold, cut or bruised feet, but for others it can lead to podoconiosis, which can have a significant impact on their quality of life. We hope that shoes can become the 'new bed-nets': simple, cost-effective interventions that mean that in future there is no reason for anyone's life to be destroyed for the want of a shoe."
Commenting on the findings, Dr Jimmy Whitworth, Head of International Activities at the Wellcome Trust, adds: "Podoconiosis is finally getting the attention it deserves as a disease that blights the lives of millions of people. The success of this international collaboration is testament to the importance of providing opportunities for training and building capacity for African researchers to take a lead on important work such as this."
Craig Brierley | EurekAlert!
Smart Data Transformation – Surfing the Big Wave
02.12.2016 | Fraunhofer-Institut für Angewandte Informationstechnik FIT
Climate change could outpace EPA Lake Champlain protections
18.11.2016 | University of Vermont
A multi-institutional research collaboration has created a novel approach for fabricating three-dimensional micro-optics through the shape-defined formation of porous silicon (PSi), with broad impacts in integrated optoelectronics, imaging, and photovoltaics.
Working with colleagues at Stanford and The Dow Chemical Company, researchers at the University of Illinois at Urbana-Champaign fabricated 3-D birefringent...
In experiments with magnetic atoms conducted at extremely low temperatures, scientists have demonstrated a unique phase of matter: The atoms form a new type of quantum liquid or quantum droplet state. These so called quantum droplets may preserve their form in absence of external confinement because of quantum effects. The joint team of experimental physicists from Innsbruck and theoretical physicists from Hannover report on their findings in the journal Physical Review X.
“Our Quantum droplets are in the gas phase but they still drop like a rock,” explains experimental physicist Francesca Ferlaino when talking about the...
The Max Planck Institute for Physics (MPP) is opening up a new research field. A workshop from November 21 - 22, 2016 will mark the start of activities for an innovative axion experiment. Axions are still only purely hypothetical particles. Their detection could solve two fundamental problems in particle physics: What dark matter consists of and why it has not yet been possible to directly observe a CP violation for the strong interaction.
The “MADMAX” project is the MPP’s commitment to axion research. Axions are so far only a theoretical prediction and are difficult to detect: on the one hand,...
Broadband rotational spectroscopy unravels structural reshaping of isolated molecules in the gas phase to accommodate water
In two recent publications in the Journal of Chemical Physics and in the Journal of Physical Chemistry Letters, researchers around Melanie Schnell from the Max...
The efficiency of power electronic systems is not solely dependent on electrical efficiency but also on weight, for example, in mobile systems. When the weight of relevant components and devices in airplanes, for instance, is reduced, fuel savings can be achieved and correspondingly greenhouse gas emissions decreased. New materials and components based on gallium nitride (GaN) can help to reduce weight and increase the efficiency. With these new materials, power electronic switches can be operated at higher switching frequency, resulting in higher power density and lower material costs.
Researchers at the Fraunhofer Institute for Solar Energy Systems ISE together with partners have investigated how these materials can be used to make power...
16.11.2016 | Event News
01.11.2016 | Event News
14.10.2016 | Event News
02.12.2016 | Medical Engineering
02.12.2016 | Agricultural and Forestry Science
02.12.2016 | Physics and Astronomy